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Human DNA Polymerase Gamma Mutation Database

All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: C224Y cDNA Position: 671 g→a (exon 3)
Disease	Genetics	Frequency	Reference
Alpers		Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA	(Sarzi et al. 2007) PubMed

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